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The official name of this gene is “myosin VI.”
MYO6 is the gene's official symbol. The MYO6 gene is also known by other names, listed below.
This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells.
NOTE: UniProt (MYO6_HUMAN) (http://www.uniprot.org/uniprot/Q9UM54) suggests using caution when interpreting this information.
Deafness, autosomal dominant, 22 (DFNA22): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. The disease is caused by mutations affecting the gene represented in this entry.
Deafness, autosomal recessive, 37 (DFNB37): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.
Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM): An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. The disease is caused by mutations affecting the gene represented in this entry.
|606346 (http://omim.org/entry/606346)||DEAFNESS, AUTOSOMAL DOMINANT 22|
|607821 (http://omim.org/entry/607821)||DEAFNESS, AUTOSOMAL RECESSIVE 37|
|600970 (http://omim.org/entry/600970)||MYOSIN VI|
Cytogenetic Location: 6q13
Molecular Location on chromosome 6: base pairs 75,749,176 to 75,919,537
The MYO6 gene is located on the long (q) arm of chromosome 6 at position 13.
More precisely, the MYO6 gene is located from base pair 75,749,176 to base pair 75,919,537 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MYO6 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
actin ; ADP ; alternative splicing ; ATP ; autosomal ; autosomal dominant ; autosomal recessive ; cardiomyopathy ; cell ; domain ; endocytosis ; epithelial ; gene ; Golgi apparatus ; hair cells ; hypertrophic ; intracellular ; isoforms ; motor ; myosin ; organelle ; plasma ; plasma membrane ; postlingual ; Pro ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; splicing ; transcript ; vesicle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.